Cardiovascular Evaluation of Adult PHA 1 Patients

NCT00646828 | Completed

• 1 other identifier: P070139
• Study Type: observational
• Target: 98
• Locations: 1 country
• Sites: 1

Brief Summary

Vascular and cardiac alterations are associated with aldosterone effects are evidenced in experimental models and aldosterone receptor blockade is of clear benefit in cardiac disease (heart failure). The study aims at assessing vascular and cardiac alterations in adults with a chronic increase in circulating aldosterone without hypertension. The investigated population will be patients with a rare disease, pseudohypoaldosteronism type 1, due to heterozygous inactivating mutations of the mineralocorticoid receptor.

Conditions

Pseudohypoaldosteronism Type 1

Keywords

Pseudohypoaldosteronism type 1; Mineralocorticoid receptor; Aldosterone; Cardiovascular disease

Outcome Measures

Primary Outcomes (1)

• Cardiac or vascular abnormality at ultrasound or NMR evaluation

  day one

Secondary Outcomes (2)

• Extracellular volume, biology, autonomic nervous system abnormality

  day one + day two

• New gene responsible for PHA1

  day one

Study Arms (2)

without PHA1

patients without mineralocorticoid receptor mutation

PHA 1

patients with a rare disease, pseudohypoaldosteronism type 1, due to heterozygous inactivating mutations of the mineralocorticoid receptor

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

patient with Pseudohypoaldosteronism type 1 and the family of these patient who dont have mineralocorticoid receptor mutation

You may qualify if:

• Age over 18
• Male or female gender
• Genotype in the PHA1.NET network

You may not qualify if:

• Not membership to a regime of Social Security or to a CMU
• Against indication in the realization of a MRI
• Cardiac NMR not possible
• Known cardiovascular disease for person not carrying MR mutation

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead

Study Sites (1)

Hôpital Bichat

Paris, 75018, France

Location

Related Publications (3)

• Pujo L, Fagart J, Gary F, Papadimitriou DT, Claes A, Jeunemaitre X, Zennaro MC. Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism. Hum Mutat. 2007 Jan;28(1):33-40. doi: 10.1002/humu.20371.

  PMID: 16972228 BACKGROUND

• Sacre K, Brihaye B, Hyafil F, Serfaty JM, Escoubet B, Zennaro MC, Lidove O, Laissy JP, Papo T. Asymptomatic myocardial ischemic disease in antiphospholipid syndrome: a controlled cardiac magnetic resonance imaging study. Arthritis Rheum. 2010 Jul;62(7):2093-100. doi: 10.1002/art.27488.

  PMID: 20506512 BACKGROUND

• Escoubet B, Couffignal C, Laisy JP, Mangin L, Chillon S, Laouenan C, Serfaty JM, Jeunemaitre X, Mentre F, Zennaro MC. Cardiovascular effects of aldosterone: insight from adult carriers of mineralocorticoid receptor mutations. Circ Cardiovasc Genet. 2013 Aug;6(4):381-90. doi: 10.1161/CIRCGENETICS.113.000115. Epub 2013 Jul 14.

  PMID: 23852419 DERIVED

MeSH Terms

Conditions

Pseudohypoaldosteronism; Cardiovascular Diseases

Condition Hierarchy (Ancestors)

Renal Tubular Transport, Inborn Errors; Kidney Diseases; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Brigitte ESCOUBET, MD

  Assistance Publique - Hôpitaux de Paris

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 28, 2008
• First Posted: March 31, 2008
• Study Start: May 1, 2008
• Primary Completion: May 1, 2011
• Study Completion: May 1, 2011
• Last Updated: January 19, 2012

Record last verified: 2010-07

Locations

FR (1)